Canonical Allele Identifier: CA344338061

Gene: REN

Linked Data

• gnomAD v4: 1-204159484-C-G
• MyVariant Identifiers: chr1:g.204128612C>G (hg19) ; chr1:g.204159484C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204159484C>G , CM000663.2:g.204159484C>G	GRCh38
NC_000001.10:g.204128612C>G , CM000663.1:g.204128612C>G	GRCh37
NC_000001.9:g.202395235C>G	NCBI36
NG_012122.1:g.11854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.604G>C MANE Select	ENSP00000272190.8:p.Ala202Pro
ENST00000638118.1:c.490G>C	ENSP00000490307.1:p.Ala164Pro
ENST00000272190.8:c.604G>C	ENSP00000272190.8:p.Ala202Pro
NM_000537.3:c.604G>C	NP_000528.1:p.Ala202Pro
NM_000537.4:c.604G>C MANE Select	NP_000528.1:p.Ala202Pro